Varaico: Literature-Extracted Genetic Variants

Gene:SAMD9
Variant:p.L266M

SAMD9

342 papers

RefSeq Summary

This gene encodes a sterile alpha motif domain-containing protein. The encoded protein localizes to the cytoplasm and may play a role in regulating cell proliferation and apoptosis. Mutations in this ...

Pfam Domains

SAM_1aa 12–75UCSCSAM domain (Sterile alpha motif)

Gene Aliases

HGNC Name

sterile alpha motif domain containing 9

HGNC Alias Symbols

KIAA2004; FLJ20073

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_017654.4
p.L266M
c.796C>A
Surrounding Variants
1 paper
NM_017654.4
p.I268T
c.803T>C
1 paper
NM_017654.4
p.A259D
c.776C>A
1 paper
NM_017654.4
p.E258A
c.773A>C
2 papers
NM_017654.4
p.K257*
c.769A>T
1 paper
NM_017654.4
p.K257E
c.769A>G
1 paper
NM_017654.4
p.H275_Q276del1
c.825_827delTGA
1 paper
NM_017654.4
p.T253I
c.758C>T
1 paper
NM_017654.4
p.A280T
c.838G>A
1 paper
NM_017654.4
p.G249_K251del0
c.746_751del6
1 paper
NM_017654.4
p.G249_I250del0
c.745_750del6
1 paper
NM_017654.4
p.K282*
c.844A>T
1 paper
NM_017654.4
p.V248V
c.744T>A
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